A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460855



Internal ID15174234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130627735..130748727hg38UCSC Ensembl
Innerchr3:130346579..130467571hg19UCSC Ensembl
Innerchr3:131829269..131950261hg18UCSC Ensembl
Innerchr3:131829277..131950269hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38120993
hg19120993
hg18120993
hg17120993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537347
Samples1780854255_A
Known GenesCOL6A6, PIK3R4
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv460855
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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